日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification of a novel POU4F3 frameshift variant in a Chinese family with autosomal dominant hearing loss.

在中国一个患有常染色体显性遗传性听力损失的家族中发现了一种新的 POU4F3 移码变异

Li Jie, Yang Shengmei, Feng Zonghui, Huang Xueshuang, Tang Genyun, Niu Youya, Yang Yunqi, Wang Bin, Jiang Haiou

Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing

病例报告:利用单分子实时测序技术在中国一个α-地中海贫血家族中鉴定出一个新的9.159 kb缺失

Wu, Shulin; Feng, Zonghui; Jiang, Fuxiang; Zhao, Min; Jiang, Peng; Xiao, Gang; Zhang, Xian

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family

中国某家族遗传性染色体不平衡异常的产前诊断和遗传咨询

Zhang, Ying; Chen, Juan; Feng, Zonghui; Li, Wencheng